trichohepatoneurodevelopmental syndrome
MONDO:0032645Mondo
Findings
No curated finding names trichohepatoneurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
72 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachycephalyHPOHP:0000248
- 4 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 4 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 3 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 4 reported patients
- Coarse facial featuresHPOHP:0000280
- 4 of 4 reported patients
- Decreased body weightHPOHP:0004325
- 4 of 4 reported patients
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- Downturned corners of mouthHPOHP:0002714
- 4 of 4 reported patients
- EEG abnormalityHPOHP:0002353
- 3 of 3 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 3 of 3 reported patients
- High palateHPOHP:0000218
- 4 of 4 reported patients
- Hip dysplasiaHPOHP:0001385
- 3 of 3 reported patients
Show the remaining 60
- Hypoplastic nipplesHPOHP:0002557
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Overlapping toeHPOHP:0001845
- 4 of 4 reported patients
- PruritusHPOHP:0000989
- 4 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCDC47HGNC:24856
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of